Organ manifestations at the time of diagnosis in 85 patients with Mulibrey nanism
| Feature | Findings in age groups | Frequency(%) | ||
|---|---|---|---|---|
| <1 year (n = 29) | 1–5 years (n = 29) | >5 years (n = 27) | ||
| *Males (n = 39); †females (n = 46) | ||||
| Heart | ||||
| Signs of heart disease | 6 | 4 | 5 | 18 |
| Cardiomegaly | 4 | 2 | 6 | 14 |
| Dyspnoea | 4 | 1 | 5 | 12 |
| Prominent veins on upper body | 3 | 1 | 5 | 11 |
| Cardiac anomaly | 6 | 2 | 4 | 15 |
| ASD | 3 | 1 | 2 | 8 |
| VSD | 1 | 1 | 2 | 5 |
| Open ductus arteriosus | 2 | 0 | 0 | 3 |
| Heart failure (CHF) | 4 | 1 | 5 | 12 |
| Pericardial constriction | 2 | 1 | 2 | 6 |
| Liver | ||||
| Hepatomegaly | 16 | 9 | 13 | 45 |
| Hepatosplenomegaly | 4 | 1 | 4 | 11 |
| Ascites | 3 | 0 | 6 | 11 |
| Liver tumours | 2 | 2 | 2 | 9 |
| Urogenital | ||||
| Renal anomaly | 4 | 4 | 6 | 18 |
| Hydronephrosis | 2 | 0 | 3 | 6 |
| Abnormally located kidney | 1 | 1 | 2 | 5 |
| Hypoplastic kidneys | 1 | 2 | 1 | 5 |
| Horseshoe kidney | 1 | 1 | 0 | 2 |
| Male genital anomaly* | 6 | |||
| Cryptorchidism | 1/13 | 3/15 | 1/11 | 6 |
| Female genital anomaly† | 2 | |||
| Hyperplastic labiae | 0/16 | 1/14 | 0/16 | 1 |
| Prominent clitoris | 0/16 | 1/14 | 1/16 | 2 |
| Wilms’ tumour | 0 | 1 | 1 | 3 |
| Benign renal neoplasia | 1 | 0 | 1 | 3 |
| Nervous system | ||||
| Yellowish dots in the ocular fundi | 20 | 17 | 24 | 79 |
| Muscular hypotonicity | 23 | 19 | 15 | 68 |
| Large cerebral ventricles and basal cisternas | 16 | 13 | 8 | 44 |
| Slow speech development | 7 | 9 | 5 | 30 |
| Slow motor development | 5 | 9 | 6 | 29 |
| Skin | ||||
| Cutaneous naevi flammei | 16 | 20 | 19 | 65 |